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Cell Physiol Biochem 2022 Apr;56(2):180-208

Cancer Pharmacology Division, Indian Institute of Integrative Medicine, CSIR, Jammu, India.

Cancer is a chaos of uncontrolled cell proliferation that has consistently invented new circuitry programs to operate inside the cell machinery. Globally, cancer statistics account for 65% of mortality worldwide, mainly due to the adoption of lifestyle behaviours. In 2020, FDA approved 40 new drugs, out of which 16 (40%) were approved as cancer drugs. Read More

Cureus 2022 Mar 17;14(3):e23253. Epub 2022 Mar 17.

Dermatology, Temple University Hospital, Philadelphia, USA.

Erythropoietic protoporphyria is a rare skin condition that commonly presents in childhood. We report a case of a 35-year-old Hispanic male with a history of sun sensitivity, presenting with complaints of immediate burning and itching of the skin on his face and upper extremities upon sun exposure. On examination, there was minimal face erythema and calluses over the knuckles. Read More

Sci Rep 2022 04 12;12(1):6100. Epub 2022 Apr 12.

Department of Gastroenterology and Hepatology, Kindai University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama, Osaka, 589-8511, Japan.

Liver damage affects the prognosis of patients with erythropoietic protoporphyria (EPP). However, there is no radical cure for EPP patients with severe liver damage. This study aims to investigate the effectiveness of phlebotomy in patients with severe liver damage. Read More

Front Physiol 2022 3;13:841050. Epub 2022 Mar 3.

Dipartimento di Medicina Interna, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

Partial deficiency of the last enzyme of the heme biosynthetic pathway, namely, ferrochelatase (FECH), is responsible for erythropoietic protoporphyria (EPP) in humans. This disorder is characterized by painful skin photosensitivity, due to excessive protoporphyrin IX (PPIX) production in erythrocytes. Although several papers report the presence of iron deficiency anemia in about 50% of EPP patients, there is still no a conclusive explanation of the why this occurs. Read More

J Dtsch Dermatol Ges 2022 Mar;20(3):316-331

Department of Dermatology, Venereology and Allergology, University Hospital Göttingen, Göttingen, Germany.

The porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic disorders and cover in detail the most common form of porphyria worldwide (porphyria cutanea tarda), the most frequent childhood porphyria (erythropoietic protoporphyria), and the most common neurocutaneous porphyria (variegate porphyria). Read More

Photodiagnosis Photodyn Ther 2022 Mar 2;38:102793. Epub 2022 Mar 2.

Department of Dermatology, Copenhagen University Hospital - Bispebjerg and Frederiksberg, Denmark.

Background: Erythropoietic protoporphyria (EPP) is caused by deficiency of the enzyme converting protoporphyrin IX (PpIX) into heme resulting in accumulation of PpIX; leading to photosensitivity and liver toxicity. Cimetidine might inhibit δ-aminolevulinic acid synthase influencing the heme biosynthesis. We present cases with EPP treated with cimetidine at our department, and a literature review. Read More

Pediatr Transplant 2022 06 28;26(4):e14261. Epub 2022 Feb 28.

Department of Surgery, Keio University School of Medicine, Tokyo, Japan.

Background: Erythropoietic protoporphyria (EPP) is a rare inherited disorder that causes the accumulation of protoporphyrin in the erythrocytes, skin, and liver. Severe protoporphyric hepatopathy results in liver failure, requiring both liver and bone marrow transplantation as a life-saving procedure and to correct the underlying enzymatic defect, respectively.

Case Presentation: We report a 20-year-old man who underwent split liver transplantation using a right trisegment and caudate lobe graft for EPP-induced liver failure, but succumbed to a deadly combination of early relapse of EPP and subsequent, intractable, late-onset bile leakage from the cut surface of segment 4. Read More

J Dermatol 2022 05 13;49(5):e179-e180. Epub 2022 Feb 13.

Department of Dermatology, Hyogo Prefectural Amagasaki General Medical Center, Amagasaki, Japan.

MMW Fortschr Med 2022 Feb;164(Suppl 4):9-10

Endokrinologikum Hamburg, Lornsenstraße 6, 22767, Hamburg, Germany.

Diagnostics (Basel) 2022 Jan 8;12(1). Epub 2022 Jan 8.

Dipartimento di Medicina Interna, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inherited disorders resulting from defects in two different enzymes of the heme biosynthetic pathway, i.e., ferrochelatase (FECH) and delta-aminolevulinic acid synthase-2 (ALAS2), respectively. Read More

Mol Genet Metab 2022 03 2;135(3):215-220. Epub 2022 Jan 2.

Porphyria Expertcenter Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, the Netherlands. Electronic address:

Background: Erythropoietic protoporphyria (EPP) patients suffer from painful phototoxicity. Sunlight-avoiding behaviour has not yet been quantified objectively in EPP patients.

Objective: To study total white light exposure obtained with an actigraph device, before and during afamelanotide treatment, in EPP patients compared to healthy controls. Read More

Front Med (Lausanne) 2021 20;8:796884. Epub 2021 Dec 20.

Dermatology Unit, Department of Medicine (DIMED), University of Padova, Padua, Italy.

Subjects with erythropoietic protoporphyria rely on broad-spectrum sunscreens with high sun protection factor, which is not informative on efficacy in the absorption spectrum of protoporphyrin IX, spanning visible radiation and peaking around 408 nm. Photoactivation of protoporphyrin IX is responsible for painful skin photosensitivity in erythropoietic protoporphyria. The authors assessed the protective efficacy of six sunscreens in the absorption spectrum of protoporphyrin IX. Read More

Metabolites 2021 Nov 23;11(12). Epub 2021 Nov 23.

Centre de Recherche sur L'Inflammation, Université de Paris, INSERM UMR 1149, 16 Rue Henri Huchard, 75018 Paris, France.

Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells. The porphyrins deposition in tissues, including the skin, leads to photosensitivity that is present in all erythropoietic porphyrias. In the bone marrow, heme synthesis is mainly controlled by intracellular labile iron by post-transcriptional regulation: translation of mRNA, the first and rate-limiting enzyme of the pathway, is inhibited when iron availability is low. Read More

Ann Diagn Pathol 2022 Feb 17;56:151859. Epub 2021 Nov 17.

Department of Pathology, The Third Affiliated Hospital, Sun Yat-sen University, Guangzhou 510000, China. Electronic address:

Erythropoietic protoporphyria (EPP) is a rare inherited disease whose morbidity is about 1:75,000 to 1:200,000. It is caused by the deficiency of porphyrin ferrochelatase (FECH). Liver involvement in EPP is even rarer. Read More

Ann Hematol 2022 06 26;101(6):1361-1363. Epub 2021 Nov 26.

Department of Hematology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.

Australas J Dermatol 2022 Feb 24;63(1):e60-e62. Epub 2021 Nov 24.

The Royal Children's Hospital, Melbourne, Australia.

Children with erythropoietic porphyria are generally under the care of paediatric dermatologists. When these children undergo major surgery, they are at risk of unusual complications due to their photosensitivity. Dermatologists may be consulted prior to surgery for advice. Read More

Photodiagnosis Photodyn Ther 2022 Mar 16;37:102629. Epub 2021 Nov 16.

Department of Dermatology, Copenhagen University Hospital - Bispebjerg and Frederiksberg, Denmark.

Background: Erythropoietic protoporphyria (EPP) is a rare genetic photodermatosis caused by loss-of-function mutations in the gene for ferrochelatase leading to accumulation of the fluorescent protoporphyrin IX (PpIX) in erythrocytes. The mutations are most often inherited mutations present in all cells causing inherited EPP. In very rare cases EPP are acquired in association with myelodysplastic syndromes or myeloproliferative neoplasms, conditions with genetic instability. Read More

Nutrition 2022 Jan 5;93:111477. Epub 2021 Sep 5.

Department of Dermatology, Copenhagen University Hospital-Bispebjerg and Frederiksberg, Denmark.

Objectives: Patients with erythropoietic protoporphyria (EPP) avoid sun exposure owing to photosensitivity. For decades, sun-avoiding Danes have been recommended daily vitamin D supplements all year. We offered our EPP patients serum 25-hydroxyvitamin D (25(OH)D) monitoring, and counseling if their level was low. Read More

Blood Adv 2022 02;6(3):760-766

Division of Hematology, Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT.

The Mendelian inheritance pattern of acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria is autosomal dominant, but the clinical phenotype is heterogeneous. Within the general population, penetrance is low, but among first-degree relatives of a symptomatic proband, penetrance is higher. These observations suggest that genetic factors, in addition to mutation of the specific enzyme of the biosynthetic pathway of heme, contribute to the clinical phenotype. Read More

Nucleic Acids Res 2021 11;49(19):10911-10930

Institute of Molecular Genetics -L.L. Cavalli Sforza, CNR, 27100 Pavia, Italy.

CSA and CSB proteins are key players in transcription-coupled nucleotide excision repair (TC-NER) pathway that removes UV-induced DNA lesions from the transcribed strands of expressed genes. Additionally, CS proteins play relevant but still elusive roles in other cellular pathways whose alteration may explain neurodegeneration and progeroid features in Cockayne syndrome (CS). Here we identify a CS-containing chromatin-associated protein complex that modulates rRNA transcription. Read More

Dig Liver Dis 2022 Apr 30;54(4):515-520. Epub 2021 Aug 30.

Porphyria Expertcenter Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015, GD, Rotterdam, the Netherlands. Electronic address:

Background: In erythropoietic protoporphyria (EPP), which presents with severe painful phototoxicity, progressive deposition of protoporphyrins in hepatocytes and bile canaliculi may result in liver disease. Clinically EPP related liver disease ranges from mildly elevated liver enzymes to cirrhosis and acute cholestatic hepatic failure. The prevalence of liver disease in EPP, and factors predicting the risk of developing liver disease, have not been defined in a large series of unselected EPP patients. Read More

Photodermatol Photoimmunol Photomed 2022 Mar 30;38(2):141-149. Epub 2021 Aug 30.

Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Background: Erythropoietic protoporphyria (EPP) is a rare disorder of heme biosynthesis hallmarked by early-onset photosensitivity and mainly due to defective ferrochelatase activity leading to increased erythrocyte protoporphyrin IX (PPIX) levels. Evidence regarding the relationship between erythrocyte PPIX concentration and photosensitivity is limited.

Methods: To investigate the relationship between free erythrocyte PPIX (FEP) concentration; routine laboratory tests, particularly iron metabolism biomarkers; and ultraviolet (UV) A/visible light phototesting findings, 20 genetically confirmed EPP and one XLPP treatment-naive patients were included in our study. Read More

J Patient Rep Outcomes 2021 Aug 15;5(1):73. Epub 2021 Aug 15.

Acaster Lloyd Consulting Ltd, London, UK.

Int J Dermatol 2021 Aug 4. Epub 2021 Aug 4.

Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

J Patient Rep Outcomes 2021 Aug 3;5(1):65. Epub 2021 Aug 3.

Acaster Lloyd Consulting Ltd, London, UK.

Background: A novel treatment has been developed for erythropoietic protoporphyria (EPP) (a rare condition that leaves patients highly sensitive to light). To fully understand the burden of EPP and the benefit of treatment, a novel patient reported outcome (PRO) measure was developed called the EPP-QoL. This report describes work to support the validation of this measure. Read More

Pediatr Blood Cancer 2021 09 10;68(9):e29231. Epub 2021 Jul 10.

Division of Bone Marrow Transplant and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

Cutaneous, hematopoietic, and hepatic manifestations of congenital erythropoietic porphyria (CEP) and erythropoietic protoporphyria (EPP) can be debilitating. We present our institution's experience with five patients with porphyria who underwent hematopoietic stem cell transplant (HSCT). Four patients with CEP, including three under age 2, received myeloablation. Read More

Internist (Berl) 2021 Sep 29;62(9):937-951. Epub 2021 Jun 29.

Porphyrie Zentrum, Klinikum Chemnitz gGmbH, Flemmingstr. 2, 09009, Chemnitz, Deutschland.

Porphyrias are caused by enzyme defects along the heme biosynthetic pathway. The first line diagnosis of porphyria is based on specific biochemical patterns of elevated porphyrins and porphyrin precursors in urine, feces, and blood. In clinically active disease accumulated porphyrin precursors and/or porphyrins lead to abdominal, neurologic, psychiatric, endocrine and cardiovascular symptoms, liver damage and/or skin photosensitivity. Read More

Cytotherapy 2021 11 31;23(11):980-984. Epub 2021 May 31.

Columbia Center for Translational Immunology (CCTI), Division of Hematology/ Oncology, Columbia University Medical Center, New York, New York, USA; Hematology Branch, National Heart, Lung, and Blood Institute, Bethesda, Maryland, United States.. Electronic address:

The outbreak of coronavirus disease 2019 (COVID-19) has disproportionately affected patients with comorbidities, including recipients of solid organ and hematopoietic stem cell transplants (SCT). Upon recovery from COVID-19, the degree of the immunological protection from reinfection remains unclear. Here we describe a 33-year-old patient with erythropoietic protoporphyria (EPP) who had undergone liver transplantation with splenectomy followed by allogeneic SCT in 2013 after an initial failed liver and umbilical cord transplant. Read More

J Cutan Med Surg 2022 May-Jun;26(3):314. Epub 2021 May 4.

74560 Department of Dermatology, Hangzhou Third People's Hospital, Affiliated Hangzhou Dermatology Hospital, Zhejiang University School of Medicine - Dermatology, Hangzhou, China.

Genet Med 2021 09 3;23(9):1616-1623. Epub 2021 May 3.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Purpose: Patients with erythropoietic protoporphyria (EPP), a severe painful photodermatosis, experience prodromal sensations when exposed to sunlight, which are the "warning signals" to exit the sun, as prolonged exposure causes an excruciatingly painful phototoxic attack. The unique prodromal cutaneous sensations are reversible and differ from the severe burning pain attack lasting 2-7 days. Previously, afamelanotide treatment was studied using time to pain or time outside as primary outcome measures. Read More